{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2175529245",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.1786T= (p.Cys596=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520131",
        "rs": 1057520131
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48508633,
          "referenceAllele": "A",
          "start": 48508632
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48508633A=",
        "CM000677.2:g.48508633A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48800830,
          "referenceAllele": "A",
          "start": 48800829
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48800830A=",
        "CM000677.1:g.48800830A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 46588122,
          "referenceAllele": "A",
          "start": 46588121
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46588122A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142156,
          "referenceAllele": "T",
          "start": 142155
        }
      ],
      "hgvs": [
        "NG_008805.2:g.142156T=",
        "LRG_778:g.142156T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "T",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.1786T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Cys596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "T",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.1786T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Cys596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "referenceAllele": "T",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.460T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "T",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.1786T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1786T="
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1786T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys596="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys596="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2242,
          "referenceAllele": "T",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.1786T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "endIntronDirection": "+",
          "endIntronOffset": 29078,
          "referenceAllele": "T",
          "start": 952,
          "startIntronDirection": "+",
          "startIntronOffset": 29077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.636+29078T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.636+29078T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082261492",
      "coordinates": [
        {
          "allele": "T",
          "end": 2181,
          "referenceAllele": "T",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.1786T=",
        "LRG_778t1:c.1786T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082261492",
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "T",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.1786T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1786T="
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1786T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys596="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys596="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}